Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.T2356I
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LRRK2

NM_198578.4:p.T2356I

Associated Papers

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

Lim KS et al.

Npj Parkinson's Disease, 2026

41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Parlar SC et al.

Npj Parkinson's Disease, 2025

40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_3

Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.

Bonato G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

39034353 (PubMed )
Supplement: 10072_2024_7690_MOESM1_ESM.docx

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

Al Delbany D et al.

Cells, 2024

39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Heart rate variability and sympathetic skin response for the assessment of autonomic dysfunction in leucine-rich repeat kinase 2 associated Parkinson's disease.

Nasri A et al.

Neurophysiologie Clinique = Clinical Neurophysiology, 2022

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

Crystal structure of the WD40 domain dimer of LRRK2.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Tied up: Does altering phosphoinositide-mediated membrane trafficking influence neurodegenerative disease phenotypes?

Nadiminti SSP et al.

Journal of Genetics, 2018

Disruption of LRRK2 in Zebrafish leads to hyperactivity and weakened antibacterial response.

Sheng D et al.

Biochemical and Biophysical Research Communications, 2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

Monfrini E et al.

Advances in Neurobiology, 2017

Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2).

Mills RD et al.

Human Mutation, 2014

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi M et al.

Journal of Alzheimer's Disease : Jad, 2014

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Aberrant alternative splicing events in Parkinson's disease.

Fu RH et al.

Cell Transplantation, 2013

Analysis of LRRK2 accessory repeat domains: prediction of repeat length, number and sites of Parkinson's disease mutations.

Mills RD et al.

Biochemical Society Transactions, 2012

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP et al.

Human Mutation, 2012

LRRK2: Understanding the role of common and rare variants in Parkinson's disease.

Sharma M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Rare and common LRRK2 exonic variants in Parkinson's disease.

Tan EK

The Lancet. Neurology, 2011

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA et al.

The Lancet. Neurology, 2011

On the road to leucine-rich repeat kinase 2 signalling: evidence from cellular and in vivo studies.

Daniëls V et al.

Neuro-signals, 2011

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

Nichols RJ et al.

The Biochemical Journal, 2010

14-3-3 proteins are promising LRRK2 interactors.

Rudenko IN et al.

The Biochemical Journal, 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.

Shojaee S et al.

Neuroscience Letters, 2009

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biskup S et al.

Biochimica Et Biophysica Acta, 2009

Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.

Hasegawa K et al.

Parkinsonism & Related Disorders, 2009

LRRK2 and neurodegeneration.

Santpere G et al.

Acta Neuropathologica, 2009

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Macedo MG et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Molecular biology changes associated with LRRK2 mutations in Parkinson's disease.

Lu YW et al.

Journal of Neuroscience Research, 2008

Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant.

Pchelina SN et al.

European Journal of Neurology, 2008

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C et al.

Human Mutation, 2008

LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity.

Jaleel M et al.

The Biochemical Journal, 2007

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

LRRK2 and Parkinson's disease in Norway.

Toft M et al.

Acta Neurologica Scandinavica. Supplementum, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."